Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• August 2021

Diffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• October 2021

Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

Diffuse intrinsic pontine gliomas generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• January 2022

Just a small taste of the hybrid closed loop pump was all it took for Andrew Parsons to jump at the chance to be involved in a longer at-home trial of the system. ...

• Rio Tinto Children's Diabetes Centre
• News and events

Georgia Egan, 16,recently completed a six-month Hybrid Closed-Loop Outpatient Trial, the longest and largest at-home trial of a hybrid closed-loop insulin pump. ...

• Rio Tinto Children's Diabetes Centre
• News and events

The main mission of the Australian and New Zealand Children's Haematology and Oncology Group is to develop and facilitate local access to the world's leading evidence-based clinical trials for all paediatric cancers, including brain tumours, as soon as practically possible.  ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• May 2024

Structural lung changes seen on computed tomography scans in persons with primary ciliary dyskinesia are currently described using cystic fibrosis derived scoring systems. Recent work has shown structural changes and frequencies that are unique to PCD, indicating the need for a unique PCD-derived scoring system. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• October 2023

Platelets are anucleate blood cells that contain mitochondria and regulate blood clotting in response to injury. Mitochondria contain their own gene expression machinery that relies on nuclear-encoded factors for the biogenesis of the oxidative phosphorylation system to produce energy required for thrombosis. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• October 2023

Multidrug resistant (MDR) and extensively drug-resistant (XDR) tuberculosis (TB) are major public health threats that are significant causes of physical sequelae and financial consequences for infected people. Treatment for MDR- and XDR-TB are more toxic and take longer duration than for drug-susceptible-TB. As a result, the long-term sequelae are thought to be more common among patients with MDR- and XDR-TB than drug-susceptible-TB, but this is yet to be quantified. ...

• Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023